Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.
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The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related familiesResurrection of vitamin D deficiency and ricketsVitamin D activities for health outcomesHormone response element binding proteins: novel regulators of vitamin D and estrogen signalingGenetic Disorders of Vitamin D MetabolismTransformation of 25- and 1 alpha-hydroxyvitamin D3 to 1 alpha, 25-dihydroxyvitamin D3 by using Streptomyces sp. strainsIntra-atrial calcium infusions, growth, and development in end organ resistance to vitamin DStructure and regulation of the rat 1,25-dihydroxyvitamin D3 receptor.A possible role of vitamin D receptors in regulating vitamin D activation in the kidney.An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three familiesA humanized mouse model of hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.Vitamin D-endocrine system.Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.Glucocorticoid hormone resistance during primate evolution: receptor-mediated mechanisms.Vitamin-D-deficient rickets in Manitoba, 1972-84.Failure to heal D-deficiency rickets and suppress secondary hyperparathyroidism with conventional doses of 1,25-dihydroxy vitamin D3.Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics.Nuclear uptake of 1,25-dihydroxy[3H]cholecalciferol in dispersed fibroblasts cultured from normal human skinDetection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.Rickets-vitamin D deficiency and dependencyGenetic defects of the 1,25-dihydroxyvitamin D3 receptor.Insights from genetic disorders of phosphate homeostasisImpaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia.Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.Genomic Determinants of Vitamin D-Regulated Gene Expression.Congenital rickets caused by maternal vitamin D deficiency.Overproduction of rat 1,25-dihydroxyvitamin D3 receptor in insect cells using the baculovirus expression system.Vitamin D metabolism and rickets in domestic animals: a review.Vitamin D: an overview of its role in skeletal muscle physiology in children and adolescents.Renal rickets-practical approach.Inherited disorders of calcium and phosphate metabolism.The vitamin D receptor: contemporary genomic approaches reveal new basic and translational insights.Aminoaciduria--its relationship to vitamin D and parathyroid hormone.The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D3A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.
P2860
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P2860
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.
description
1978 nî lūn-bûn
@nan
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
1978年论文
@zh
1978年论文
@zh-cn
name
Vitamin-D-dependent rickets ty ...... ns to 1,25-dihydroxyvitamin D.
@en
type
label
Vitamin-D-dependent rickets ty ...... ns to 1,25-dihydroxyvitamin D.
@en
prefLabel
Vitamin-D-dependent rickets ty ...... ns to 1,25-dihydroxyvitamin D.
@en
P2093
P1476
Vitamin-D-dependent rickets ty ...... ns to 1,25-dihydroxyvitamin D.
@en
P2093
Hamstra AJ
Queener SF
P304
P356
10.1056/NEJM197805042981804
P407
P577
1978-05-01T00:00:00Z